Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is f...

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Veröffentlicht in:	Annals of human genetics 2018-01, Vol.82 (1), p.35-47
Hauptverfasser:	Bastaki, Fatma, Bizzari, Sami, Hamici, Sana, Nair, Pratibha, Mohamed, Madiha, Saif, Fatima, Malik, Ethar Mustafa, Al‐Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak
Format:	Artikel
Sprache:	eng
Schlagworte:	ALG13 ALG8 carbohydrate‐deficient glycoprotein syndrome CDG Congenital diseases Congenital disorder of glycosylation Glycosylation Mutation SRD5A3 Transferrins
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